Variant report

Variant	rs73118111
Chromosome Location	chr1:223297026-223297027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223287635..223290461-chr1:223295103..223297223,2	MCF-7	breast:
2	chr1:223296767..223297559-chr1:223306916..223307610,2	MCF-7	breast:
3	chr1:222638748..222639626-chr1:223296719..223297222,2	MCF-7	breast:
4	chr1:223296797..223297694-chr1:223871442..223872189,2	MCF-7	breast:
5	chr1:223263134..223264236-chr1:223296939..223297699,6	MCF-7	breast:
6	chr1:223262068..223263627-chr1:223296887..223298444,2	K562	blood:
7	chr1:223254365..223255362-chr1:223296447..223297836,4	MCF-7	breast:
8	chr1:222638446..222639286-chr1:223296954..223297729,2	K562	blood:
9	chr1:223295440..223297086-chr1:223310909..223313590,2	MCF-7	breast:
10	chr1:223295784..223298223-chr1:223301441..223304262,2	K562	blood:

No data

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019278	1.00[AMR][1000 genomes]
rs11488546	1.00[AMR][1000 genomes]
rs1341287	1.00[AMR][1000 genomes]
rs1713218	1.00[AMR][1000 genomes]
rs2253649	1.00[AMR][1000 genomes]
rs2487832	1.00[AMR][1000 genomes]
rs28584917	1.00[AMR][1000 genomes]
rs5744162	1.00[AMR][1000 genomes]
rs61737415	1.00[AMR][1000 genomes]
rs73113906	1.00[AMR][1000 genomes]
rs73113914	1.00[AMR][1000 genomes]
rs73113918	1.00[AMR][1000 genomes]
rs73113929	1.00[AMR][1000 genomes]
rs73113937	1.00[AMR][1000 genomes]
rs73113940	1.00[AMR][1000 genomes]
rs73115872	1.00[AMR][1000 genomes]
rs73115888	1.00[AMR][1000 genomes]
rs73118103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118120	1.00[AMR][1000 genomes]
rs73118121	1.00[AMR][1000 genomes]
rs73120209	1.00[AMR][1000 genomes]
rs73120240	1.00[AMR][1000 genomes]
rs73120248	1.00[AMR][1000 genomes]
rs73120252	1.00[AMR][1000 genomes]
rs73120270	1.00[AMR][1000 genomes]
rs73120271	1.00[AMR][1000 genomes]
rs73120274	1.00[AMR][1000 genomes]
rs73120283	1.00[AMR][1000 genomes]
rs73120288	1.00[AMR][1000 genomes]
rs73122203	1.00[AMR][1000 genomes]
rs73122204	1.00[AMR][1000 genomes]
rs73122205	1.00[AMR][1000 genomes]
rs73122207	1.00[AMR][1000 genomes]
rs73122216	1.00[AMR][1000 genomes]
rs73122222	1.00[AMR][1000 genomes]
rs73122236	1.00[AMR][1000 genomes]
rs73122239	1.00[AMR][1000 genomes]
rs825119	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223276800-223302200	Weak transcription	Esophagus	oesophagus
2	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223282400-223302800	Weak transcription	Thymus	Thymus
4	chr1:223283400-223302600	Weak transcription	Gastric	stomach
5	chr1:223289400-223302400	Weak transcription	Spleen	Spleen
6	chr1:223290800-223302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:223291000-223299200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:223292000-223297200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:223293200-223302400	Weak transcription	Placenta	Placenta
10	chr1:223294200-223302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:223295600-223297200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:223296400-223297200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:223296400-223297200	Enhancers	HUVEC	blood vessel
14	chr1:223296600-223297200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:223296600-223297200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:223296600-223297200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:223296600-223297200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:223296600-223297200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:223296600-223297200	Active TSS	Duodenum Mucosa	Duodenum
20	chr1:223296600-223297200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:223296600-223297200	Flanking Active TSS	Fetal Lung	lung
22	chr1:223296600-223297200	Enhancers	HSMM	muscle
23	chr1:223296600-223297200	Flanking Active TSS	Osteobl	bone
24	chr1:223296600-223297400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:223296600-223298800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:223296800-223297200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:223296800-223297200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr1:223296800-223297200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr1:223296800-223297200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:223296800-223297200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:223296800-223297200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr1:223296800-223297200	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:223296800-223297200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:223296800-223297200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:223296800-223297200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:223296800-223297200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:223296800-223297200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:223296800-223297200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr1:223296800-223297200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:223296800-223297200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:223296800-223297200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:223296800-223297200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr1:223296800-223297200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:223296800-223297200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:223296800-223297200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:223296800-223297200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:223296800-223297200	Enhancers	Aorta	Aorta
48	chr1:223296800-223297200	Enhancers	Liver	Liver
49	chr1:223296800-223297200	Enhancers	Brain Anterior Caudate	brain
50	chr1:223296800-223297200	Flanking Active TSS	Colonic Mucosa	Colon

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